Allele Registry

Canonical Allele Identifier: PA104132

Gene: SHH HGNC NCBI

ClinVar RCV:

RCV000009433

RCV001092783

RCV001813967

ClinVar Variation:

8883

HGVS (amino-acid)	Matching Registered Transcripts
NP_000184.1:p.Ala226Thr	CA340834 NM_000193.4:c.676G>A